This document discusses genetics and genetic counseling. It begins by defining genetics as the study of inheritance and transmission of traits between generations. It then discusses how genetics relates to human health conditions like cancer, heart disease, and diabetes. The document outlines methods for screening and prevention of genetic disorders, including prenatal screening using ultrasound and amniocentesis. Genetic counseling is defined as a process that provides families information about inherited disorders and options for managing risks. The goals of counseling are promoting informed decisions, explaining treatment options, and decreasing incidence of genetic disorders.

1. Genetics
Dr.Shahzad A.Daula
MID (UOL) M.Phil. Public Health (Pb)

2. Health of an individual is based on
 Uncontrollable factors (genetics, gender,
predisposition to a disease).
 Controllable factors (diet, smoking status,
exercise levels).

3. GENETICS
Study of inheritance dealing with the transmission
of hereditary characters from one generation to
another.
Human genetics is concerned with the inheritance
of human traits and their relationship to the
human health.
Deals with the hereditary disorders and provide
key to their prevention and control.

4. Diseases Associated with Genetic
Predisposition
Cancer
Coronary heart disease
Diabetes (Insulin dependent)
Alzheimer’s disease

5. Prevention & Control of
Genetic Disorders
1. Prevention
2. Screening
3. Counseling

7. SpecificProtection
From X-Ray
Early diagnosis by :-
- Detection of carriers
- Prenatal diagnostics
- Amniocentesis
- New born screening
- Pre clinical case recognition

8. Screening
Applied at Prenatal, Neonatal & general population
levels.
Prenatal & Neonatal screening – ideal approach for
early diagnosis & prompt treatment of hereditary
disorders.

9. Prenatal Screeni ng
Prenatal screening by:-
-Ultrasonography
-Amniocentesis(14-16 weeks of pregnancy)
diagnosis of spina bifida & other neural tube
abnormalities.
- Chorionic villus sampling technique(10-12
weeks of pregnancy)- both biochemical and
structural abnormalities can be detected.

10. Neonatal Screenin g
Help in detecting hereditary disorders
like:-
- Phenylketonuria
- Sickle cell Anemia
- Duchenne muscular
dystrophy

11. Population Screeni ng
 To identify individuals at risk of developing
hereditary disorders.
 Objective :-
-To make presymptomatic diagnosis for
arresting the progress of such disease by timely
preventive intervention.
- Only such disorders should be
Identified for which measures for prevention &
treatment are available.

12. Genetic counseling :- An integral part of
management of patients and families with
genetic disorders.
- Retrospective
- Prospective
Genetic Counseling

13. Essential Componen
of Counseling
ts
n
e
 History of family
 background constructio
 Clinical diagnosis
 Confirmatory diagnosis
 Calculation reoccurrenc
 Counseling
 Follow up

14. Reaching accurate diagnosis
Family history
Physical/Clinical examination
Cytogenetic studies/Radiology
Laboratory/DNAanalysis

15. Genetic Counseling :-
- Available options
- Risk calculation
- New developments
- Disease course
- Treatment availability

16. Decision Making :-
- Knowledge of disease
recurrence
- Available options
- Family pressure
- Religious beliefs
- Social status
- Economic status
- Community influence

17. Counseling
Webster’s Dictionary
Counseling is consultation,mutual
interchangeof opinions,
deliberatingtogether.”
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18. Genetics
Thetermgeneticswasintroduced by
Batesonin 1906.Ithasbeen derived
fromGreekword „gene‟whichmeans
„tobecome‟or„togrow into.
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19. General concept
Genetic:Branchof sciencewhich studiesgenes
and thepatternof inheritanceof particular
diseases
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Inheritance:Thepassingof familial elements
fromonegenerationtothenext.

21. Pattern of inheritance
Human cellcontain 23pairs
of chromosomes.22pairs
autosomal and one pair sex
chromosomes.
23chromosomesinherited
from motherand 23
chromosomesfromfather.
Sexchromosomes:XX for
femaleand XY formale.

22. Genetic counseling

23. Genetic counseling
Geneticcounselingis aprocessby which
patientsorrelatives,atrisk of aninherited
disorder,are advised of theconsequences
and natureof thedisorder, the probability
of developing or transmittingit and the
optionsopen tothemin managementand
family planning in ordertopreventor
avoid it.

24. Aims of genetic counseling
Thegeneticcounselingaimstoprovide thefamily with
completeand accurateinformation about genetic
disorders.
1. Promotinginformed decisionsby involved family
members
2. Clarifying thefamily‟soptions available
treatmentand prognosis
3. Explaining alternativestoreducetheriskof genetic
disorders
4. Decreasingtheincidenceof geneticdisorders
5. Reducing theimpactof thedisorders

25. Function of genetic
counselling session
Provide information
Available solution
Help persontounderstandand cope with
hiscondition
 Testingtheriskof recurrence

26. INDICATIONS FOR GENETIC COUNCELING
1.Hereditarydiseasein apatientorfamily
2.Birth defects
3.Mental retardation
4.Advanced maternalage
5.Earlyonsetof cancerin family
6.Miscarriages
7.Malformations
8.Tendencytodevelop aneurologic
conditions

28. STEPS OF GENETIC COUNCELLING:
Diagnosis
Prognosis
Treatment

29. Genetic counselling
ethics
Respecttherightof individual
Non- directiveapproach
Keepprivacy of individual andfamily
Maintain thecommunicationbetween
counsellorand hisclient

30. Any question ?

32. Genetic Servic es
MTP
PC-PNDT act
Antenatal clinics
Immunization
Contraception
Iron and folic acid supplement
USG
ICDS programme